Canonical Allele Identifier: CA2695207481
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116986del , CM000669.2:g.19116986del GRCh38
NC_000007.13:g.19156609del , CM000669.1:g.19156609del GRCh37
NC_000007.12:g.19123134del NCBI36
NG_008114.1:g.5688del
NG_008114.2:g.5688del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.337del MANE Select ENSP00000242261.5:p.Ala113ProfsTer12
ENST00000242261.5:c.337del ENSP00000242261.5:p.Ala113ProfsTer12
ENST00000354571.5:c.134del
NM_000474.3:c.337del NP_000465.1:p.Ala113ProfsTer12
XM_011515496.1:c.337del XP_011513798.1:p.Ala113ProfsTer12
NR_149001.1:n.688del
NM_000474.4:c.337del MANE Select NP_000465.1:p.Ala113ProfsTer12
NR_149001.2:n.652del
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